Canonical Allele Identifier: CA234287

Gene: MMUT

Linked Data

• ClinVar Variation Id: 167310
• ClinVar RCV Id: RCV000179277 ; RCV000790701 ; RCV001193927 ; RCV001271707
• dbSNP Id: rs727504020
• ExAC: 6:49419304 G / A
• gnomAD v2: 6-49419304-G-A
• gnomAD v3: 6-49451591-G-A
• gnomAD v4: 6-49451591-G-A
• COSMIC: COSM4655387
• MyVariant Identifiers: chr6:g.49419304G>A (hg19) ; chr6:g.49451591G>A (hg38)
• PubMed: PMID:12402345 ; PMID:23024777 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49451591G>A , CM000668.2:g.49451591G>A	GRCh38
NC_000006.11:g.49419304G>A , CM000668.1:g.49419304G>A	GRCh37
NC_000006.10:g.49527263G>A	NCBI36
NG_007100.1:g.16549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.1207C>T MANE Select	ENSP00000274813.3:p.Arg403Ter
ENST00000274813.3:c.1207C>T	ENSP00000274813.3:p.Arg403Ter
NM_000255.3:c.1207C>T	NP_000246.2:p.Arg403Ter
XM_005249143.2:c.1207C>T	XP_005249200.1:p.Arg403Ter
XM_005249143.3:c.1207C>T	XP_005249200.1:p.Arg403Ter
NM_000255.4:c.1207C>T MANE Select	NP_000246.2:p.Arg403Ter